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1.
598 Accesses
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Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia
Maria Silva, Maria do Socorro Pombo-de-Oliveira, Susana C Raimondi, Hasmik Mkrtchyan, Eliana Abdelhay, Amanda de Figueiredo, Mariana de Souza, Daniela Garcia, Eliane de Ventura, Adriana de Sousa, Thomas Liehr Molecular Cytogenetics 2009, 2:7 (19 February 2009)
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2.
501 Accesses
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On the origin of trisomy 21 Down syndrome
Maj A Hultén, Suketu D Patel, Maira Tankimanova, Magnus Westgren, Nikos Papadogiannakis, Anna Jonsson, Erik Iwarsson Molecular Cytogenetics 2008, 1:21 (18 September 2008)
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| PubMed | Cited on BioMed Central
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3.
493 Accesses
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Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years’ clinical application for over 8,700 patients
Joo Wook Ahn, Susan Bint, Anne Bergbaum, Kathy Mann, Richard P Hall, Caroline Mackie Ogilvie Molecular Cytogenetics 2013, 6:16 (5 April 2013)
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4.
443 Accesses
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Heteromorphic variants of chromosome 9
Nadezda Kosyakova, Ani Grigorian, Thomas Liehr, Marina Manvelyan, Isabella Simonyan, Hasmik Mkrtchyan, Rouben Aroutiounian, Anna D Polityko, Anna I Kulpanovich, Tatiana Egorova, Evgenia Jaroshevich, Alla Frolova, Natalia Shorokh, Irina V Naumchik, Marianne Volleth, Isolde Schreyer, Heike Nelle, Markus Stumm, Rolf-Dieter Wegner, Gisela Reising-Ackermann, Martina Merkas, Lukretija Brecevic, Thomas Martin, Laura Rodríguez, Samarth Bhatt, Monika Ziegler, Katharina Kreskowski, Anja Weise, Ali Sazci, Svetlana Vorsanova, Marcelo de Bello Cioffi, Emel Ergul et al.
Molecular Cytogenetics 2013, 6:14 (1 April 2013)
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5.
434 Accesses
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Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study
Zhihong Yang, Jiaen Liu, Gary S Collins, Shala A Salem, Xiaohong Liu, Sarah S Lyle, Alison C Peck, E Sills, Rifaat D Salem Molecular Cytogenetics 2012, 5:24 (2 May 2012)
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Editor’s summary
Selectively implanting euploid embryos, with a normal number of chromosomes, significantly increases pregnancy rates for IVF patients, highlighting the importance of offering preimplantation genetic screening.
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6.
433 Accesses
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Human interphase chromosomes: a review of available molecular cytogenetic technologies
Svetlana G Vorsanova, Yuri B Yurov, Ivan Y Iourov Molecular Cytogenetics 2010, 3:1 (11 January 2010)
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| PubMed | Cited on BioMed Central |
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7.
429 Accesses
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Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review
Morteza Hemmat, Omid Hemmat, Arturo Anguiano, Fatih Z Boyar, Mohammed El Naggar, Jia-Chi Wang, Borris T Wang, Trilochan Sahoo, Renius Owen, Mary Haddadin Molecular Cytogenetics 2013, 6:17 (2 May 2013)
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8.
366 Accesses
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A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization
Qingwei Qi, Xiya Zhou, Yulin Jiang, Na Hao, Jing Zhou, Liang Zhang Molecular Cytogenetics 2013, 6:11 (6 March 2013)
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9.
357 Accesses
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The genome diversity and karyotype evolution of mammals
Alexander S Graphodatsky, Vladimir A Trifonov, Roscoe Stanyon Molecular Cytogenetics 2011, 4:22 (12 October 2011)
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10.
351 Accesses
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Genetic testing for hearing loss in the United States
should include deletion/duplication analysis for the
deafness/infertility locus at 15q15.3
Nicole Hoppman, Umut Aypar, Pamela Brodersen, Neil Brown, Justin Wilson, Dusica Babovic-Vuksanovic Molecular Cytogenetics 2013, 6:19 (6 May 2013)
Abstract | Provisional PDF
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11.
335 Accesses
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The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): rationale, potential and challenges
Hoh BoonPeng, Khalid Yusoff Molecular Cytogenetics 2013, 6:8 (1 March 2013)
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12.
315 Accesses
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Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy
Emmanouil Manolakos, Catherine Sarri, Annalisa Vetro, Konstantinos Kefalas, Eleni Leze, Christalena Sofocleus, George Kitsos, Konstantina Merou, Haris Kokotas, Anna Papadopoulou, Achilleas Attilakos, Michael B Petersen, Sofia Kitsiou-Tzeli Molecular Cytogenetics 2011, 4:6 (23 February 2011)
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13.
305 Accesses
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Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia
Renu Bajaj, Fang Xu, Bixia Xiang, Katherine Wilcox, Autumn J DiAdamo, Rachana Kumar, Alexandra Pietraszkiewicz, Stephanie Halene, Peining Li Molecular Cytogenetics 2011, 4:3 (20 January 2011)
Abstract | Full text | PDF
| PubMed | Cited on BioMed Central
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14.
297 Accesses
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A de novo acute myeloid leukemia (AML-M4) case
with a complex karyotype and yet unreported
breakpoints
Walid Al-achkar, Abdulmunim Aljapawe, Moneeb Abdullah Othman, Abdulsamad Wafa Molecular Cytogenetics 2013, 6:18 (5 May 2013)
Abstract | Provisional PDF
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15.
285 Accesses
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FISH mapping of Philadelphia negative BCR/ABL1 positive CML
Anna Virgili, Diana Brazma, Alistair G Reid, Julie Howard-Reeves, Mikel Valgañón, Anastasios Chanalaris, Valeria AS De Melo, David Marin, Jane F Apperley, Colin Grace, Ellie P Nacheva Molecular Cytogenetics 2008, 1:14 (18 July 2008)
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16.
282 Accesses
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Reviewer acknowledgement 2013
Thomas Liehr, Henry Heng, Yuri Yurov Molecular Cytogenetics 2013, 6:9 (15 April 2013)
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17.
279 Accesses
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Fluorescence in situ hybridization in combination with the comet assay and micronucleus test in genetic toxicology
Galina G Hovhannisyan Molecular Cytogenetics 2010, 3:17 (15 September 2010)
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18.
279 Accesses
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Cytogenetic contribution to uniparental disomy (UPD)
Thomas Liehr Molecular Cytogenetics 2010, 3:8 (29 March 2010)
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| PubMed | Cited on BioMed Central
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19.
278 Accesses
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CGH and SNP array using DNA extracted from fixed cytogenetic preparations and long-term refrigerated bone marrow specimens
Ruth N MacKinnon, Carly Selan, Adrian Zordan, Meaghan Wall, Harshal Nandurkar, Lynda J Campbell Molecular Cytogenetics 2012, 5:10 (2 February 2012)
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20.
273 Accesses
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Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male
Sofia Kitsiou-Tzeli, Emmanouil Manolakos, Magdalini Lagou, Maria Kontodiou, Nadezda Kosyakova, Elisabeth Ewers, Anja Weise, Antonios Garas, Sandro Orru, Thomas Liehr, Aikaterini Metaxotou Molecular Cytogenetics 2009, 2:1 (7 January 2009)
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| PubMed | Cited on BioMed Central
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21.
253 Accesses
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Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases
Sang-Jin Park, Eun Jung, Ran-Suk Ryu, Hyun Kang, Jung-Min Ko, Hyon J Kim, Chong Cheon, Sang-Hyun Hwang, Ho-Young Kang Molecular Cytogenetics 2011, 4:12 (9 May 2011)
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22.
252 Accesses
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Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders
Patrícia BS Celestino-Soper, Cindy Skinner, Richard Schroer, Patricia Eng, Jayant Shenai, Malgorzata MJ Nowaczyk, Deborah Terespolsky, Donna Cushing, Gayle S Patel, LaDonna Immken, Alecia Willis, Joanna Wiszniewska, Reuben Matalon, Jill A Rosenfeld, Roger E Stevenson, Sung-Hae L Kang, Sau Cheung, Arthur L Beaudet, Pawel Stankiewicz Molecular Cytogenetics 2012, 5:17 (5 April 2012)
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| PubMed | Cited on BioMed Central
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23.
248 Accesses
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Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene
Mileny ES Colovati, Luciana RJ da Silva, Sylvia S Takeno, Tatiane I Mancini, Ana R N Dutra, Roberta S Guilherme, Cláudia B de Mello, Maria I Melaragno, Ana B A Perez Molecular Cytogenetics 2012, 5:5 (19 January 2012)
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24.
250 Accesses
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De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features
Toshiyuki Yamamoto, Mari Matsuo, Shino Shimada, Noriko Sangu, Keiko Shimojima, Seijiro Aso, Kayoko Saito Molecular Cytogenetics 2013, 6:15 (3 April 2013)
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25.
247 Accesses
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Cytogenetic analysis in three Bryconamericus species (Characiformes, Characidae): first description of the 5S rDNA-bearing chromosome pairs in the genus
Diovani Piscor, Daniela Bocagini Ribacinko-Piscor, Carlos Alexandre Fernandes, Patricia Pasquali Parise-Maltempi Molecular Cytogenetics 2013, 6:13 (1 April 2013)
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